Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
PRF1	5551	broad.mit.edu	36	10	72030297	72030297	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:72030297C>G	uc009xqg.1	-	c.368G>C	c.(367-369)CGT>CCT	p.R123P	PRF1_uc001jrf.2_Missense_Mutation_p.R123P	NM_001083116	NP_005032	P14222	PERF_HUMAN	perforin 1 precursor	123	MACPF.		R -> H.		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.R123H(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.266667	6.8775	7.629039	4	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72030297	72030297	12921	10	C	G	G	19	19	PRF1	G	3	3
OR8D4	338662	broad.mit.edu	36	11	123282857	123282857	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123282857G>A	uc001pzj.1	+	c.509G>A	c.(508-510)GGA>GAA	p.G170E		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)												0.352459	490.533317	499.910424	172	316	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	Missense_Mutation	SNP	123282857	123282857	11644	11	G	A	A	41	41	OR8D4	A	2	2
OR51E1	143503	broad.mit.edu	36	11	4630792	4630792	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4630792C>T	uc001lzi.2	+	c.457C>T	c.(457-459)CGG>TGG	p.R153W	OR51E1_uc001lzj.1_Missense_Mutation_p.R153W	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)												0.322917	74.291057	76.862611	31	65	CC		KEEP	---	---	---	---	capture		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4630792	4630792	11504	11	C	T	T	27	27	OR51E1	T	1	1
OR4C12	283093	broad.mit.edu	36	11	49960586	49960586	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:49960586A>G	uc001nhc.1	-	c.28T>C	c.(28-30)TTC>CTC	p.F10L		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.245614	81.299103	88.063561	28	86	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49960586	49960586	11452	11	A	G	G	4	4	OR4C12	G	4	4
FIBP	9158	broad.mit.edu	36	11	65412442	65412442	+	Silent	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65412442G>A	uc001ogd.1	-	c.24C>T	c.(22-24)TTC>TTT	p.F8F	FIBP_uc009yqu.1_Silent_p.F8F|FIBP_uc001oge.1_Silent_p.F8F|CCDC85B_uc001ogf.1_5'Flank	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	8					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1												OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.8	13.309411	13.72125	4	1	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(159;0.166)	Silent	SNP	65412442	65412442	6124	11	G	A	A	37	37	FIBP	A	1	1
OR2AG1	144125	broad.mit.edu	36	11	6763609	6763609	+	Silent	SNP	C	G	G			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6763609C>G	uc001mer.1	+	c.765C>G	c.(763-765)GCC>GCG	p.A255A		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)												0.368056	152.714399	154.92663	53	91	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	Silent	SNP	6763609	6763609	11390	11	C	G	G	21	21	OR2AG1	G	3	3
DEAF1	10522	broad.mit.edu	36	11	678025	678025	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:678025C>T	uc001lqq.1	-	c.550G>A	c.(550-552)GGC>AGC	p.G184S	DEAF1_uc009ycf.1_Non-coding_Transcript	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	184					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)												0.336538	98.695979	101.152651	35	69	CC		KEEP	---	---	---	---	capture		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	Missense_Mutation	SNP	678025	678025	4551	11	C	T	T	23	23	DEAF1	T	1	1
KDM2B	84678	broad.mit.edu	36	12	120364683	120364683	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:120364683C>T	uc001uat.1	-	c.2944G>A	c.(2944-2946)GAG>AAG	p.E982K	KDM2B_uc001uas.1_Missense_Mutation_p.E913K|KDM2B_uc009zxe.1_Missense_Mutation_p.E913K|KDM2B_uc001uau.1_Intron|KDM2B_uc009zxf.1_Missense_Mutation_p.E982K|KDM2B_uc001uao.1_Missense_Mutation_p.E230K|KDM2B_uc001uap.1_Non-coding_Transcript|KDM2B_uc001uaq.1_Missense_Mutation_p.E422K|KDM2B_uc001uar.1_Missense_Mutation_p.E573K	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	982					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)	1														0.272727	44.738847	47.801239	18	48	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120364683	120364683	8431	12	C	T	T	31	31	KDM2B	T	1	1
OR6C65	403282	broad.mit.edu	36	12	54081045	54081045	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54081045C>G	uc001sgx.1	+	c.466C>G	c.(466-468)CCC>GCC	p.P156A		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.354386	296.852104	302.234183	101	184	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54081045	54081045	11605	12	C	G	G	30	30	OR6C65	G	3	3
ANKS1B	56899	broad.mit.edu	36	12	98690990	98690990	+	Silent	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:98690990G>A	uc001tge.1	-	c.969C>T	c.(967-969)ACC>ACT	p.T323T	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.T289T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	323						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)												0.285714	40.041509	42.053466	14	35	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	Silent	SNP	98690990	98690990	697	12	G	A	A	39	39	ANKS1B	A	1	1
PAN3	255967	broad.mit.edu	36	13	27739518	27739518	+	Missense_Mutation	SNP	A	C	C			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:27739518A>C	uc001urz.1	+	c.1334A>C	c.(1333-1335)TAC>TCC	p.Y445S	PAN3_uc001urx.1_Missense_Mutation_p.Y391S|PAN3_uc001ury.1_Missense_Mutation_p.Y279S	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	445	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|protein phosphorylation	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)												0.336538	110.585436	113.047266	35	69	AA		KEEP	---	---	---	---	capture	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	Missense_Mutation	SNP	27739518	27739518	11832	13	A	C	C	14	14	PAN3	C	4	4
RXFP2	122042	broad.mit.edu	36	13	31258537	31258537	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:31258537C>T	uc001utt.1	+	c.947C>T	c.(946-948)ACG>ATG	p.T316M	RXFP2_uc010aba.1_Missense_Mutation_p.T275M	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	316	Extracellular (Potential).|LRR 8.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)												0.395161	145.647226	146.840568	49	75	CC		KEEP	---	---	---	---	capture		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	Missense_Mutation	SNP	31258537	31258537	14240	13	C	T	T	19	19	RXFP2	T	1	1
BEGAIN	57596	broad.mit.edu	36	14	100074486	100074486	+	Missense_Mutation	SNP	G	C	C			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:100074486G>C	uc001yhq.1	-	c.1355C>G	c.(1354-1356)GCC>GGC	p.A452G	BEGAIN_uc001yhp.1_Missense_Mutation_p.A388G	NM_020836	NP_065887	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	452						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				NSCLC(159;1889 2010 9965 27479 40101)								0.333333	7.53278	7.860703	4	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100074486	100074486	1420	14	G	C	C	42	42	BEGAIN	C	3	3
SLCO3A1	28232	broad.mit.edu	36	15	90464778	90464778	+	Silent	SNP	A	C	C			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:90464778A>C	uc002bqx.1	+	c.1089A>C	c.(1087-1089)GCA>GCC	p.A363A	SLCO3A1_uc002bqy.1_Silent_p.A363A|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.A305A	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	363	Helical; Name=7; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity				0	Lung NSC(78;0.0158)|all_lung(78;0.0255)													0.340659	454.087011	464.345585	155	300	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0841)		Silent	SNP	90464778	90464778	15225	15	A	C	C	7	7	SLCO3A1	C	4	4
LASS3	204219	broad.mit.edu	36	15	98830704	98830704	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:98830704C>T	uc002bwa.1	-	c.719G>A	c.(718-720)CGC>CAC	p.R240H	LASS3_uc002bvz.1_Missense_Mutation_p.R229H|LASS3_uc002bwb.1_Missense_Mutation_p.R229H	NM_178842	NP_849164	Q8IU89	LASS3_HUMAN	LAG1 longevity assurance homolog 3	229	TLC.				regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(2)|pancreas(1)	3	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)					NSCLC(135;1149 2482 10680 49908)								0.276596	99.864027	106.199217	39	102	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		Missense_Mutation	SNP	98830704	98830704	8963	15	C	T	T	27	27	LASS3	T	1	1
DNAH3	55567	broad.mit.edu	36	16	20945869	20945869	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:20945869A>G	uc002did.1	-	c.5521T>C	c.(5521-5523)TCT>CCT	p.S1841P		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1841	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14														0.333333	6.534675	6.749819	3	6	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.207)	Missense_Mutation	SNP	20945869	20945869	4786	16	A	G	G	11	11	DNAH3	G	4	4
MYH13	8735	broad.mit.edu	36	17	10153337	10153337	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10153337C>T	uc002gmk.1	-	c.5108G>A	c.(5107-5109)CGC>CAC	p.R1703H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1703	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.355932	58.358643	59.437387	21	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10153337	10153337	10427	17	C	T	T	27	27	MYH13	T	1	1
STAT5A	6776	broad.mit.edu	36	17	37711847	37711847	+	Silent	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37711847C>T	uc002hzj.1	+	c.1536C>T	c.(1534-1536)AAC>AAT	p.N512N	STAT5A_uc010cya.1_Silent_p.N512N|STAT5A_uc010cyb.1_Silent_p.N481N|STAT5A_uc010cyc.1_Silent_p.N482N|STAT5A_uc010cyd.1_5'UTR|STAT5A_uc010cye.1_5'UTR	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	512					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)								465				0.370079	126.284551	128.171011	47	80	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.128)	Silent	SNP	37711847	37711847	15788	17	C	T	T	17	17	STAT5A	T	2	2
MPP3	4356	broad.mit.edu	36	17	39244010	39244010	+	Missense_Mutation	SNP	T	G	G			TCGA-02-2486-01	TCGA-02-2486-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39244010T>G	uc002ieh.1	-	c.1420A>C	c.(1420-1422)AAC>CAC	p.N474H	MPP3_uc002iei.2_Missense_Mutation_p.N449H|MPP3_uc002iej.1_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	449	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)	1		Breast(137;0.00394)												0.294118	145.412951	151.218168	45	108	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.119)	Missense_Mutation	SNP	39244010	39244010	10127	17	T	G	G	63	63	MPP3	G	4	4
ASXL3	80816	broad.mit.edu	36	18	29574332	29574332	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:29574332G>A	uc010dmg.1	+	c.2966G>A	c.(2965-2967)CGG>CAG	p.R989Q	ASXL3_uc002kxq.2_Missense_Mutation_p.R696Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	989					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.32	23.393491	24.111925	8	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29574332	29574332	1087	18	G	A	A	39	39	ASXL3	A	1	1
CC2D1A	54862	broad.mit.edu	36	19	13901917	13901917	+	Missense_Mutation	SNP	C	G	G			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13901917C>G	uc002mxo.1	+	c.2737C>G	c.(2737-2739)CTG>GTG	p.L913V	CC2D1A_uc002mxp.1_Missense_Mutation_p.L912V|CC2D1A_uc010dzh.1_Missense_Mutation_p.L482V	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	913					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0														0.222222	6.783615	8.070411	4	14	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		Missense_Mutation	SNP	13901917	13901917	2846	19	C	G	G	28	28	CC2D1A	G	3	3
CCDC105	126402	broad.mit.edu	36	19	14993195	14993195	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14993195G>A	uc002nae.1	+	c.905G>A	c.(904-906)CGG>CAG	p.R302Q		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	302	Potential.				microtubule cytoskeleton organization	microtubule				ovary(1)	1														0.357143	54.881393	55.889243	20	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14993195	14993195	2860	19	G	A	A	39	39	CCDC105	A	1	1
TMEM161A	54929	broad.mit.edu	36	19	19093455	19093455	+	Missense_Mutation	SNP	T	C	C			TCGA-02-2486-01	TCGA-02-2486-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19093455T>C	uc002nlg.1	-	c.679A>G	c.(679-681)ATC>GTC	p.I227V	TMEM161A_uc010eca.1_Non-coding_Transcript|TMEM161A_uc002nlh.1_Missense_Mutation_p.I202V|TMEM161A_uc002nli.1_Missense_Mutation_p.I124V|TMEM161A_uc002nlj.1_Missense_Mutation_p.I102V	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A	227	Helical; (Potential).				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2														0.421875	86.111997	86.452846	27	37	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		Missense_Mutation	SNP	19093455	19093455	16610	19	T	C	C	49	49	TMEM161A	C	4	4
SPHK2	56848	broad.mit.edu	36	19	53824646	53824646	+	Missense_Mutation	SNP	G	T	T			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53824646G>T	uc002pjw.2	+	c.1955G>T	c.(1954-1956)GGT>GTT	p.G652V	SPHK2_uc002pjr.1_Missense_Mutation_p.G590V|SPHK2_uc002pjs.1_Missense_Mutation_p.G590V|SPHK2_uc002pjt.1_Missense_Mutation_p.G384V|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.1_Missense_Mutation_p.G554V	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	590					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity				0		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)												0.307692	7.256376	7.70957	4	9	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	Missense_Mutation	SNP	53824646	53824646	15559	19	G	T	T	44	44	SPHK2	T	3	3
NUP62	23636	broad.mit.edu	36	19	55103746	55103746	+	Silent	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55103746G>A	uc002pqx.1	-	c.1131C>T	c.(1129-1131)CGC>CGT	p.R377R	IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.1_Silent_p.R377R|NUP62_uc002pqz.1_Silent_p.R377R|NUP62_uc002pra.1_Silent_p.R377R|NUP62_uc002prb.1_Silent_p.R377R|NUP62_uc002prc.2_Silent_p.R301R|NUP62_uc010enp.1_Silent_p.R377R	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	377	Potential.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|transcription regulator activity|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)												0.351648	263.638297	268.928289	96	177	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	Silent	SNP	55103746	55103746	11173	19	G	A	A	38	38	NUP62	A	1	1
HNRNPCL1	343069	broad.mit.edu	36	1	12830296	12830296	+	Missense_Mutation	SNP	C	T	T	rs4026148	unknown	TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12830296C>T	uc009vno.1	-	c.434G>A	c.(433-435)CGT>CAT	p.R145H	HNRNPCL1_uc001aul.1_Missense_Mutation_p.R145H	NM_001013631	NP_001013653	O60812	HNRCL_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	145						ribonucleoprotein complex	nucleotide binding				0														0.369427	331.626254	336.327584	116	198	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12830296	12830296	7555	1	C	T	T	19	19	HNRNPCL1	T	1	1
HNRNPCL1	343069	broad.mit.edu	36	1	12830473	12830473	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12830473G>A	uc009vno.1	-	c.257C>T	c.(256-258)GCA>GTA	p.A86V	HNRNPCL1_uc001aul.1_Missense_Mutation_p.A86V	NM_001013631	NP_001013653	O60812	HNRCL_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	86	RRM.					ribonucleoprotein complex	nucleotide binding				0														0.176471	79.896139	105.106565	45	210	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12830473	12830473	7555	1	G	A	A	46	46	HNRNPCL1	A	2	2
DUSP27	92235	broad.mit.edu	36	1	165330814	165330814	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:165330814C>T	uc001geb.1	+	c.104C>T	c.(103-105)CCT>CTT	p.P35L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	35					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.263158	7.532467	8.528096	5	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165330814	165330814	5009	1	C	T	T	24	24	DUSP27	T	2	2
GPR52	9293	broad.mit.edu	36	1	172684563	172684563	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:172684563C>T	uc001gka.1	+	c.691C>T	c.(691-693)CGT>TGT	p.R231C	RABGAP1L_uc001gjx.1_Intron|RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	231	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						Ovarian(92;924 1390 1930 16467 40583)								0.338235	396.922876	406.364806	138	270	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	172684563	172684563	6973	1	C	T	T	23	23	GPR52	T	1	1
KIF21B	23046	broad.mit.edu	36	1	199241160	199241160	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199241160G>A	uc001gvs.1	-	c.631C>T	c.(631-633)CGC>TGC	p.R211C	KIF21B_uc001gvr.1_Missense_Mutation_p.R211C|KIF21B_uc009wzl.1_Missense_Mutation_p.R211C|KIF21B_uc001gvt.1_5'UTR	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	211	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.310127	132.472814	137.517346	49	109	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199241160	199241160	8600	1	G	A	A	39	39	KIF21B	A	1	1
CR1	1378	broad.mit.edu	36	1	205736340	205736340	+	Silent	SNP	G	C	C			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205736340G>C	uc001hfx.1	+	c.105G>C	c.(103-105)GCG>GCC	p.A35A	CR1_uc009xcj.1_Silent_p.A35A|CR1_uc009xck.1_Silent_p.A35A|CR1_uc009xcl.1_Silent_p.A35A|CR1_uc001hfy.1_Silent_p.A35A	NM_000651	NP_000642	P17927	CR1_HUMAN	complement receptor 1 isoform S precursor	35					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.333333	6.567859	7.051012	6	12	GG		KEEP	---	---	---	---	capture			Silent	SNP	205736340	205736340	3979	1	G	C	C	38	38	CR1	C	3	3
HSPG2	3339	broad.mit.edu	36	1	22089076	22089076	+	Nonsense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22089076G>A	uc009vqd.1	-	c.559C>T	c.(559-561)CGA>TGA	p.R187*	HSPG2_uc001bfj.1_Nonsense_Mutation_p.R187*|HSPG2_uc009vqe.1_Silent_p.S85S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	187	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Becaplermin(DB00102)|Palifermin(DB00039)									0.241667	69.818667	77.122455	29	91	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Nonsense_Mutation	SNP	22089076	22089076	7730	1	G	A	A	39	39	HSPG2	A	5	1
OR2T4	127074	broad.mit.edu	36	1	246591966	246591966	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246591966G>A	uc001ieh.1	+	c.461G>A	c.(460-462)CGC>CAC	p.R154H		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	154	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)													0.327586	352.853615	363.497806	133	273	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		Missense_Mutation	SNP	246591966	246591966	11433	1	G	A	A	38	38	OR2T4	A	1	1
SLC2A1	6513	broad.mit.edu	36	1	43168942	43168942	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43168942C>T	uc001cik.2	-	c.458G>A	c.(457-459)CGT>CAT	p.R153H		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	153	Cytoplasmic (Potential).		R -> H (in GLUT1DS2).|R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)									0.4	39.654086	39.956387	14	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43168942	43168942	15035	1	C	T	T	19	19	SLC2A1	T	1	1
ISM1	140862	broad.mit.edu	36	20	13227712	13227712	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:13227712C>T	uc010gce.1	+	c.1001C>T	c.(1000-1002)ACG>ATG	p.T334M		NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog	334	AMOP.					extracellular region					0														0.485714	50.573302	50.579489	17	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13227712	13227712	8164	20	C	T	T	19	19	ISM1	T	1	1
LCT	3938	broad.mit.edu	36	2	136283991	136283991	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136283991C>T	uc002tuu.1	-	c.2396G>A	c.(2395-2397)CGT>CAT	p.R799H		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	799	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11														0.337748	137.495491	141.002828	51	100	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.169)	Missense_Mutation	SNP	136283991	136283991	9017	2	C	T	T	19	19	LCT	T	1	1
LRP2	4036	broad.mit.edu	36	2	169769014	169769014	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169769014G>A	uc002ues.1	-	c.7729C>T	c.(7729-7731)CGC>TGC	p.R2577C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2577	LDL-receptor class B 28.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.373333	386.991578	392.278956	140	235	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169769014	169769014	9329	2	G	A	A	40	40	LRP2	A	1	1
B3GNT7	93010	broad.mit.edu	36	2	231971015	231971015	+	Missense_Mutation	SNP	A	C	C			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231971015A>C	uc002vrs.1	+	c.341A>C	c.(340-342)TAC>TCC	p.Y114S		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	114	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)												0.190476	6.430985	8.404301	4	17	AA		KEEP	---	---	---	---	capture		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	Missense_Mutation	SNP	231971015	231971015	1283	2	A	C	C	14	14	B3GNT7	C	4	4
CAD	790	broad.mit.edu	36	2	27300066	27300066	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27300066A>G	uc002rji.1	+	c.941A>G	c.(940-942)AAC>AGC	p.N314S	CAD_uc010eyw.1_Missense_Mutation_p.N314S	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	314	Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|nuclear matrix	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)					653				0.242735	417.637535	452.964233	142	443	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27300066	27300066	2681	2	A	G	G	2	2	CAD	G	4	4
RHOQ	23433	broad.mit.edu	36	2	46656816	46656816	+	Missense_Mutation	SNP	T	A	A			TCGA-02-2486-01	TCGA-02-2486-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46656816T>A	uc002rva.1	+	c.288T>A	c.(286-288)TTT>TTA	p.F96L		NM_012249	NP_036381	P17081	RHOQ_HUMAN	ras-like protein TC10	96					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glucose import|regulation of actin cytoskeleton organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.34058	126.078428	129.180425	47	91	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.114)		Missense_Mutation	SNP	46656816	46656816	13817	2	T	A	A	62	62	RHOQ	A	4	4
ATR	545	broad.mit.edu	36	3	143666679	143666679	+	Missense_Mutation	SNP	C	A	A			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:143666679C>A	uc003eux.2	-	c.6991G>T	c.(6991-6993)GAC>TAC	p.D2331Y	ATR_uc003euy.1_Missense_Mutation_p.D217Y	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2331	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.15625	23.855091	34.693316	15	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143666679	143666679	1223	3	C	A	A	29	29	ATR	A	3	3
SCN10A	6336	broad.mit.edu	36	3	38714175	38714175	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38714175C>T	uc003ciq.1	-	c.5540G>A	c.(5539-5541)CGA>CAA	p.R1847Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1847					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8					Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.533333	197.806561	197.922822	64	56	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Missense_Mutation	SNP	38714175	38714175	14394	3	C	T	T	31	31	SCN10A	T	1	1
CCBP2	1238	broad.mit.edu	36	3	42881820	42881820	+	Silent	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42881820G>A	uc003cme.1	+	c.822G>A	c.(820-822)ACG>ACA	p.T274T	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.1_Silent_p.T274T|CCBP2_uc003cmg.2_Intron|CCBP2_uc010hie.1_Intron|CYP8B1_uc010hif.1_Intron|CCBP2_uc010hig.1_Silent_p.T274T	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	274	Extracellular (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity				0														0.503937	373.687369	373.690887	128	126	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.241)	Silent	SNP	42881820	42881820	2854	3	G	A	A	38	38	CCBP2	A	1	1
PLXNB1	5364	broad.mit.edu	36	3	48438532	48438532	+	Silent	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48438532G>A	uc003csv.1	-	c.1506C>T	c.(1504-1506)TGC>TGT	p.C502C	PLXNB1_uc003csu.1_Silent_p.C502C|PLXNB1_uc003csw.1_Silent_p.C502C|PLXNB1_uc003csx.1_Silent_p.C502C|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1	502	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5														0.444444	105.089563	105.306804	36	45	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	Silent	SNP	48438532	48438532	12549	3	G	A	A	38	38	PLXNB1	A	1	1
NPY5R	4889	broad.mit.edu	36	4	164490943	164490943	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:164490943G>A	uc003iqn.1	+	c.68G>A	c.(67-69)CGG>CAG	p.R23Q	NPY5R_uc003iqo.2_Missense_Mutation_p.R23Q	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	23	Extracellular (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane					0	all_hematologic(180;0.166)	Prostate(90;0.109)				Melanoma(139;1287 1774 9781 19750 25599)								0.378531	204.181665	206.473254	67	110	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	164490943	164490943	11015	4	G	A	A	39	39	NPY5R	A	1	1
NEK1	4750	broad.mit.edu	36	4	170583959	170583959	+	Missense_Mutation	SNP	A	C	C			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:170583959A>C	uc003isd.1	-	c.2887T>G	c.(2887-2889)TCG>GCG	p.S963A	NEK1_uc003isb.1_Missense_Mutation_p.S935A|NEK1_uc003isc.1_Missense_Mutation_p.S891A|NEK1_uc003ise.1_Missense_Mutation_p.S919A|NEK1_uc003isf.1_Missense_Mutation_p.S866A	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	935					cell division|cilium assembly|mitosis|protein phosphorylation	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)								366				0.304348	7.356211	8.248354	7	16	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	Missense_Mutation	SNP	170583959	170583959	10720	4	A	C	C	10	10	NEK1	C	4	4
ADAM29	11086	broad.mit.edu	36	4	176133864	176133864	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:176133864G>A	uc003iuc.1	+	c.613G>A	c.(613-615)GTC>ATC	p.V205I	ADAM29_uc003iud.1_Missense_Mutation_p.V205I|ADAM29_uc003iue.1_Missense_Mutation_p.V205I|ADAM29_uc010irr.1_Missense_Mutation_p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	205	Peptidase M12B.|Extracellular (Potential).		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(1)		ovary(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(1)	10		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)				Ovarian(140;1727 1835 21805 25838 41440)			p.V205I(SNUC5-Tumor)|p.V205I(HCC2279-Tumor)	106				0.344262	176.980158	180.895292	63	120	GG		KEEP	---	---	---	---	capture		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	Missense_Mutation	SNP	176133864	176133864	248	4	G	A	A	40	40	ADAM29	A	1	1
NSUN7	79730	broad.mit.edu	36	4	40495608	40495608	+	Nonsense_Mutation	SNP	G	T	T			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:40495608G>T	uc003gvj.2	+	c.1330G>T	c.(1330-1332)GAA>TAA	p.E444*	NSUN7_uc003gvi.2_Nonsense_Mutation_p.E444*|NSUN7_uc010ift.1_Nonsense_Mutation_p.E444*	NM_024677	NP_078953			NOL1/NOP2/Sun domain family, member 7												0														0.290541	106.55353	112.379169	43	105	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	40495608	40495608	11088	4	G	T	T	33	33	NSUN7	T	5	3
GABRB2	2561	broad.mit.edu	36	5	160653731	160653731	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:160653731G>A	uc003lys.1	-	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C|GABRB2_uc010jiu.1_Missense_Mutation_p.R391C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	492	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)			Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.296296	88.260723	92.267026	32	76	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	160653731	160653731	6418	5	G	A	A	39	39	GABRB2	A	1	1
GABRA6	2559	broad.mit.edu	36	5	161045869	161045869	+	Missense_Mutation	SNP	G	T	T			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161045869G>T	uc003lyu.2	+	c.94G>T	c.(94-96)GTC>TTC	p.V32F		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	32	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)			Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.3	140.953381	146.662228	48	112	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	161045869	161045869	6416	5	G	T	T	40	40	GABRA6	T	3	3
GABRP	2568	broad.mit.edu	36	5	170154877	170154877	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:170154877C>T	uc003mau.1	+	c.328C>T	c.(328-330)CGC>TGC	p.R110C	GABRP_uc003mav.1_Missense_Mutation_p.R18C	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	110	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)												0.379661	326.866714	330.599299	112	183	CC		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Missense_Mutation	SNP	170154877	170154877	6425	5	C	T	T	23	23	GABRP	T	1	1
HRH2	3274	broad.mit.edu	36	5	175042939	175042939	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175042939G>A	uc003mdc.2	+	c.97G>A	c.(97-99)GTT>ATT	p.V33I	HRH2_uc003mdd.1_Missense_Mutation_p.V33I|HRH2_uc010jjx.1_Missense_Mutation_p.V33I	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	33	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)			Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)									0.324937	340.933524	351.733272	129	268	GG		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Missense_Mutation	SNP	175042939	175042939	7648	5	G	A	A	40	40	HRH2	A	1	1
BTNL9	153579	broad.mit.edu	36	5	180412853	180412853	+	Missense_Mutation	SNP	A	C	C			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180412853A>C	uc003mmt.1	+	c.784A>C	c.(784-786)ACC>CCC	p.T262P		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	262	Helical; (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)												0.25	6.423796	7.102792	3	9	AA		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	180412853	180412853	1602	5	A	C	C	10	10	BTNL9	C	4	4
IL31RA	133396	broad.mit.edu	36	5	55242167	55242167	+	Nonsense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:55242167C>T	uc003jql.1	+	c.1552C>T	c.(1552-1554)CGA>TGA	p.R518*	IL31RA_uc003jqm.2_Nonsense_Mutation_p.R486*|IL31RA_uc003jqn.2_Nonsense_Mutation_p.R518*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R481*|IL31RA_uc003jqo.1_Nonsense_Mutation_p.R376*	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	486	Extracellular (Potential).|Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)												0.405263	218.066944	219.547511	77	113	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	55242167	55242167	7992	5	C	T	T	19	19	IL31RA	T	5	1
PRDM13	59336	broad.mit.edu	36	6	100168771	100168771	+	Silent	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:100168771G>A	uc003pqg.1	+	c.1539G>A	c.(1537-1539)GGG>GGA	p.G513G		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)												0.44186	54.624484	54.749863	19	24	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0598)	Silent	SNP	100168771	100168771	12896	6	G	A	A	44	44	PRDM13	A	2	2
BEND3	57673	broad.mit.edu	36	6	107498524	107498524	+	Silent	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:107498524G>A	uc003prs.1	-	c.564C>T	c.(562-564)AAC>AAT	p.N188N		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	188										ovary(3)	3														0.438776	117.788165	118.110389	43	55	GG		KEEP	---	---	---	---	capture			Silent	SNP	107498524	107498524	1422	6	G	A	A	40	40	BEND3	A	1	1
KIAA1244	57221	broad.mit.edu	36	6	138654605	138654605	+	Silent	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138654605C>T	uc003qhu.2	+	c.3090C>T	c.(3088-3090)AGC>AGT	p.S1030S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1030					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)													0.444444	22.596249	22.64483	8	10	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Silent	SNP	138654605	138654605	8526	6	C	T	T	27	27	KIAA1244	T	1	1
KCNQ5	56479	broad.mit.edu	36	6	73843871	73843871	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:73843871G>A	uc003pgk.1	+	c.722G>A	c.(721-723)CGC>CAC	p.R241H	KCNQ5_uc003pgj.2_Missense_Mutation_p.R241H|KCNQ5_uc010kat.1_Missense_Mutation_p.R241H	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	241	Helical; Voltage-sensor; Name=Segment S4; (Potential).				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R241H(1)		ovary(4)|large_intestine(2)	6		all_epithelial(107;0.116)|Lung NSC(302;0.219)				GBM(142;1375 1859 14391 23261 44706)								0.388889	155.661028	157.220361	56	88	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Missense_Mutation	SNP	73843871	73843871	8391	6	G	A	A	38	38	KCNQ5	A	1	1
CPA2	1358	broad.mit.edu	36	7	129696757	129696757	+	Missense_Mutation	SNP	A	G	G			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129696757A>G	uc003vpq.1	+	c.160A>G	c.(160-162)AAA>GAA	p.K54E		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	56					proteolysis|vacuolar protein catabolic process	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.223404	113.160525	126.378913	42	146	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129696757	129696757	3928	7	A	G	G	9	9	CPA2	G	4	4
NOS3	4846	broad.mit.edu	36	7	150329941	150329941	+	Silent	SNP	C	T	T	rs61761732	unknown	TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150329941C>T	uc003wif.1	+	c.1602C>T	c.(1600-1602)TAC>TAT	p.Y534Y		NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	534	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)	7	all_neural(206;0.219)				L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)				p.Y534Y(SKMEL1-Tumor)	755				0.303191	144.615732	151.109266	57	131	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Silent	SNP	150329941	150329941	10947	7	C	T	T	19	19	NOS3	T	1	1
STK31	56164	broad.mit.edu	36	7	23769050	23769050	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23769050C>T	uc003sws.2	+	c.1399C>T	c.(1399-1401)CGC>TGC	p.R467C	STK31_uc003swt.2_Missense_Mutation_p.R444C|STK31_uc010kuq.1_Missense_Mutation_p.R444C	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	467					protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4									p.R467G(NB1-Tumor)	598				0.231707	45.384836	50.790291	19	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23769050	23769050	15816	7	C	T	T	19	19	STK31	T	1	1
TXNDC3	51314	broad.mit.edu	36	7	37890441	37890441	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37890441C>T	uc003tfn.1	+	c.1006C>T	c.(1006-1008)CGT>TGT	p.R336C		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	336	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						Ovarian(108;903 1537 27096 29907 47400)								0.259615	66.785855	72.223031	27	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37890441	37890441	17354	7	C	T	T	27	27	TXNDC3	T	1	1
HECW1	23072	broad.mit.edu	36	7	43326773	43326773	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43326773G>A	uc003tid.1	+	c.367G>A	c.(367-369)GAA>AAA	p.E123K	HECW1_uc003tie.1_Missense_Mutation_p.E155K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.212766	46.165212	53.32021	20	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43326773	43326773	7325	7	G	A	A	37	37	HECW1	A	1	1
SRCRB4D	136853	broad.mit.edu	36	7	75857505	75857505	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:75857505C>T	uc003ufb.1	-	c.1535G>A	c.(1534-1536)CGC>CAC	p.R512H	SRCRB4D_uc003ufa.1_Missense_Mutation_p.A14T	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	512	SRCR 4.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1														0.160714	29.391306	41.655578	18	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75857505	75857505	15651	7	C	T	T	27	27	SRCRB4D	T	1	1
KIAA1324L	222223	broad.mit.edu	36	7	86359094	86359094	+	Missense_Mutation	SNP	T	A	A			TCGA-02-2486-01	TCGA-02-2486-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86359094T>A	uc003uie.1	-	c.2234A>T	c.(2233-2235)GAG>GTG	p.E745V	KIAA1324L_uc003uif.1_Missense_Mutation_p.E731V	NM_152748	NP_689961	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 2	971	Cytoplasmic (Potential).					integral to membrane				ovary(6)	6	Esophageal squamous(14;0.0058)													0.147727	20.154237	30.611544	13	75	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86359094	86359094	8533	7	T	A	A	54	54	KIAA1324L	A	4	4
GFRA2	2675	broad.mit.edu	36	8	21652487	21652487	+	Silent	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:21652487G>A	uc003wzu.1	-	c.687C>T	c.(685-687)TGC>TGT	p.C229C	GFRA2_uc003wzv.1_Silent_p.C124C|GFRA2_uc003wzw.1_Silent_p.C96C|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 preproprotein	229					transmembrane receptor protein tyrosine kinase signaling pathway	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell line-derived neurotrophic factor receptor activity				0														0.428571	76.910584	77.167352	27	36	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	Silent	SNP	21652487	21652487	6616	8	G	A	A	38	38	GFRA2	A	1	1
C8orf80	389643	broad.mit.edu	36	8	27942763	27942763	+	Missense_Mutation	SNP	A	C	C			TCGA-02-2486-01	TCGA-02-2486-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27942763A>C	uc003xgm.2	-	c.2093T>G	c.(2092-2094)GTG>GGG	p.V698G		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	hypothetical protein LOC389643	698						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)												0.4	6.978039	7.070515	4	6	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	Missense_Mutation	SNP	27942763	27942763	2551	8	A	C	C	6	6	C8orf80	C	4	4
FAM150A	389658	broad.mit.edu	36	8	53614982	53614982	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:53614982C>T	uc003xrd.1	-	c.287G>A	c.(286-288)CGA>CAA	p.R96Q		NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	hypothetical protein LOC389658	96						extracellular region					0		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)												0.530612	81.153935	81.194159	26	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53614982	53614982	5654	8	C	T	T	31	31	FAM150A	T	1	1
PTPN3	5774	broad.mit.edu	36	9	111224891	111224891	+	Missense_Mutation	SNP	C	T	T			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111224891C>T	uc004bed.1	-	c.1064G>A	c.(1063-1065)CGG>CAG	p.R355Q	PTPN3_uc004beb.1_Missense_Mutation_p.R224Q|PTPN3_uc004bec.1_Intron|PTPN3_uc010mtu.1_Non-coding_Transcript	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	355					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3														0.327815	289.567009	297.483925	99	203	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111224891	111224891	13246	9	C	T	T	23	23	PTPN3	T	1	1
PALM2-AKAP2	445815	broad.mit.edu	36	9	111940518	111940518	+	Missense_Mutation	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111940518G>A	uc004bei.2	+	c.3569G>A	c.(3568-3570)CGA>CAA	p.R1190Q	PALM2-AKAP2_uc004bek.2_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bej.2_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R768Q|AKAP2_uc004bem.1_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R776Q|PALM2-AKAP2_uc004ben.1_Missense_Mutation_p.R727Q	NM_001004065	NP_001004065	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 1	727	Potential.						enzyme binding			ovary(3)|central_nervous_system(2)	5														0.317757	92.411029	95.570809	34	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111940518	111940518	11826	9	G	A	A	37	37	PALM2-AKAP2	A	1	1
KIAA0649	9858	broad.mit.edu	36	9	137517430	137517430	+	Missense_Mutation	SNP	C	A	A			TCGA-02-2486-01	TCGA-02-2486-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137517430C>A	uc004cfr.1	+	c.1253C>A	c.(1252-1254)ACC>AAC	p.T418N	KIAA0649_uc010nas.1_Missense_Mutation_p.T418N	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	418						nucleolus	protein binding			ovary(1)|central_nervous_system(1)	2														0.37037	83.123526	84.320002	30	51	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	Missense_Mutation	SNP	137517430	137517430	8494	9	C	A	A	18	18	KIAA0649	A	3	3
GRPR	2925	broad.mit.edu	36	X	16052108	16052108	+	Silent	SNP	G	A	A			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:16052108G>A	uc004cxj.1	+	c.111G>A	c.(109-111)CCG>CCA	p.P37P		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	37	Extracellular (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)	3	Hepatocellular(33;0.183)											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.672932	604.267999	611.382109	179	87	GG		KEEP	---	---	---	---	capture			Silent	SNP	16052108	16052108	7087	23	G	A	A	39	39	GRPR	A	1	1
ZMYM3	9203	broad.mit.edu	36	X	70389578	70389578	+	Missense_Mutation	SNP	G	C	C			TCGA-02-2486-01	TCGA-02-2486-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70389578G>C	uc004dzh.1	-	c.253C>G	c.(253-255)CTG>GTG	p.L85V	ZMYM3_uc004dzi.1_Missense_Mutation_p.L85V|ZMYM3_uc004dzj.1_Missense_Mutation_p.L85V|ZMYM3_uc004dzk.2_Missense_Mutation_p.L85V|ZMYM3_uc004dzl.2_Missense_Mutation_p.L85V|ZMYM3_uc004dzm.2_Missense_Mutation_p.L85V	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	85					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)													0.266667	8.891473	9.63059	4	11	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70389578	70389578	18292	23	G	C	C	34	34	ZMYM3	C	3	3
KCNMB4	27345	broad.mit.edu	36	12	69080254	69080254	+	Splice_Site_Del	DEL	A	-	-			TCGA-02-2486-01	TCGA-02-2486-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:69080254_69080254delA	uc001svx.1	+	c.e2_splice_site				NM_014505	NP_055320			calcium-activated potassium channel beta 4						detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding				0	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)											0.34			70	138				---	---	---	---	capture_indel			Splice_Site_Del	DEL	69080254	69080254	8382	12	A	-	-	15	15	KCNMB4	-	5	5
CDKN2C	1031	broad.mit.edu	36	1	51212197	51212198	+	Frame_Shift_Ins	INS	-	A	A			TCGA-02-2486-01	TCGA-02-2486-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:51212197_51212198insA	uc001csf.1	+	c.174_175insA	c.(172-177)CTTAGAfs	p.L58fs	CDKN2C_uc001csg.1_Frame_Shift_Ins_p.L58fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C	58_59	ANK 2.				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(6)|p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		Melanoma(47;50 1155 4767 22863 47597)				40				0.51			79	76				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	51212197	51212198	3294	1	-	A	A	61	61	CDKN2C	A	5	5
